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FLASH GENE
Symbol UBE2H contributors: mct - updated : 20-03-2017
HGNC name ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)
HGNC id 12484
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral    Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • conserved UBC domain of 150AA harboring the cysteine residue required for enzyme-ubiquitin thioester formation
    • HOMOLOGY
    interspecies homolog to yeast UBC8
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • ubiquitin conjugating enzyme H2A
  • E2 enzyme of the ubiquitin-dependent proteolytic system
  • is an ubiquitin conjugating enzyme known to act on histones and cytoskeletal proteins, both involved in the degenerative pathway of the motor neuron
  • E2 enzyme UBE2H and the E3 enzyme TRIM72 were up-regulated during myogenesis
  • UBE2H and TRIM72 complexes are required for PTK2 ubiquitination and degradation
    • CELLULAR PROCESS cell cycle
    protein, degradation
    PHYSIOLOGICAL PROCESS development
    text brain
    PATHWAY
    metabolism
    signaling
    a component
  • PTK2 formed a complex with its E2 enzyme, UBE2H, and E3 enzyme, TRIM72
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • activating PARK2
  • UBE2H is an E2 partner of TRIM72 for IRS1 ubiquitination
  • TAL1 expression activated UBE2H expression, whereas TAL1 knock-down reduced UBE2H expression and ubiquitin transfer activity
  • TRIM72 is an ubiquitin E3 ligase that induces IRS1 ubiquitination with the help of an E2-conjugating enzyme, UBE2H
  • TRIM72 induces PTK2 ubiquitination with the aid of UBE2H during skeletal myogenesis
    • cell & other
    REGULATION
    activated by PARK2
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to autism with developmental quotient higher than 30
    • Variant & Polymorphism SNP
  • significant association was found between the G allele and a subgroup of autistic patients with developmental quotient higher than 30
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS